List of variants in gene EPB42 reported as likely benign for anemia

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_001114134.2(EPB42):c.10+19C>T	rs77809780	0.02853
NM_001114134.2(EPB42):c.654+7G>A	rs72721553	0.01821
NM_001114134.2(EPB42):c.1318+4C>T	rs45498491	0.01529
NM_001114134.2(EPB42):c.1767C>A (p.His589Gln)	rs114354377	0.00619
NM_001114134.2(EPB42):c.1279C>T (p.Arg427Cys)	rs45594632	0.00285
NM_001114134.2(EPB42):c.894C>T (p.Thr298=)	rs35719500	0.00225
NM_001114134.2(EPB42):c.453T>C (p.Asn151=)	rs114136713	0.00205
NM_001114134.2(EPB42):c.741C>A (p.Gly247=)	rs115626075	0.00182
NM_001114134.2(EPB42):c.1672G>A (p.Glu558Lys)	rs75424023	0.00133
NM_001114134.2(EPB42):c.1602G>A (p.Thr534=)	rs149742998	0.00048
NM_001114134.2(EPB42):c.1779+7A>G	rs200770579	0.00014
NM_001114134.2(EPB42):c.1280G>A (p.Arg427His)
NM_001114134.2(EPB42):c.1619-19C>T
NM_001114134.2(EPB42):c.2044G>A (p.Val682Ile)
NM_001114134.2(EPB42):c.550-37_550-12dup	rs368862301

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